Varaico: Literature-Extracted Genetic Variants

HERC2

430 papers

RefSeq Summary

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing ...

Pfam Domains

RCC1aa 513–566UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 569–614UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 623–672UCSCRegulator of chromosome condensation (RCC1) repeat

RCC1aa 675–724UCSCRegulator of chromosome condensation (RCC1) repeat

Cyt-b5aa 1211–1283UCSCCytochrome b5-like Heme/Steroid binding domain

MIB_HERC2aa 1870–1930UCSCMib_herc2

Gene Aliases

HGNC Name

HECT and RLD domain containing E3 ubiquitin protein ligase 2

HGNC Alias Symbols

jdf2; p528; D15F37S1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004667.6

p.C4788S

c.14362T>A

Surrounding Variants

1 paper

NM_004667.6

p.C4788S

c.14363G>C

1 paper

NM_004667.6

p.A4784S

c.14350G>T

1 paper

NM_004667.6

p.A4784P

c.14350G>C

1 paper

NM_004667.6

p.A4797T

c.14389G>A

1 paper

NM_004667.6

p.E4778*

c.14332G>T

1 paper

NM_004667.6

p.C4773S

c.14318G>C

1 paper

NM_004667.6

p.C4773S

c.14317T>A

1 paper

NM_004667.6

p.P4769L

c.14306C>T

1 paper

NM_004667.6

p.P4769S

c.14305C>T

1 paper

NM_004667.6

p.A4807D

c.14420C>A

5 papers

NM_004667.6

p.C4762S

c.14285G>C

5 papers

NM_004667.6

p.C4762S

c.14284T>A