Varaico: Literature-Extracted Genetic Variants

STAC2

37 papers

RefSeq Summary

This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of t...

Pfam Domains

C1_1aa 111–164UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

STAC2_u1aa 167–295UCSCUnstructured on SH3 and cysteine-rich domain-containing protein 2

SH3_9aa 299–347UCSCVariant SH3 domain

SH3_2aa 355–411UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 and cysteine rich domain 2

HGNC Alias Symbol

24b2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198993.5

p.E327D

c.981G>T

Surrounding Variants

1 paper

NM_198993.5

p.E327D

c.981G>C

1 paper

NM_198993.5

p.W329S

c.986G>C

1 paper

NM_198993.5

p.R337W

c.1009C>T

1 paper

NM_198993.5

p.G352A

c.1055G>C

1 paper

NM_198993.5

p.N376Y

c.1126A>T

1 paper

NM_198993.5

p.Q314Splc

c.941+55G>C

1 paper

NM_198993.5

p.Q306L

c.917A>T

2 papers

NM_198993.5

p.K302R

c.905A>G

1 paper

NM_198993.5

p.Y301C

c.902A>G

1 paper

NM_198993.5

p.Y295_S296del2

c.883_887del6

1 paper

NM_198993.5

p.G397V

c.1190G>T

1 paper

NM_198993.5

p.T409T

c.1227T>G