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.P81R

c.242C>G

Surrounding Variants

1 paper

NM_198993.5

p.P80fs

c.238_239fs

1 paper

NM_198993.5

p.R86K

c.257G>A

1 paper

NM_198993.5

p.T69M

c.206C>T

1 paper

NM_198993.5

p.P99S

c.295C>T

1 paper

NM_198993.5

p.P99T

c.295C>A

1 paper

NM_198993.5

p.P99fs

c.295_296fs

1 paper

NM_198993.5

p.P99delFs

c.295_296delGG

1 paper

NM_198993.5

p.R100P

c.299G>C

1 paper

NM_198993.5

p.R55_G57del3

c.163_170del9

1 paper

NM_198993.5

p.L54delFs

c.161delA

3 papers

NM_198993.5

p.L110P

c.329T>C

1 paper

NM_198993.5

p.T42A

c.124A>G