Varaico: Literature-Extracted Genetic Variants

TLN1

235 papers

RefSeq Summary

This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in...

Pfam Domains

FERM_f0aa 4–83UCSCN-terminal or F0 domain of Talin-head FERM

FERM_Maa 201–313UCSCFERM central domain

IRSaa 313–400UCSCPTB domain (IRS-1 type)

Talin_middleaa 491–652UCSCTalin, middle domain

Talin_IBS2Baa 649–757UCSCTalin IBS2B domain

Talin_VBS2aa 794–909UCSCTalin VBS2 domain

Gene Aliases

HGNC Name

talin 1

HGNC Alias Symbol

ILWEQ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006289.4

p.R2016Q

c.6047G>A

Surrounding Variants

3 papers

NM_006289.4

p.A2013T

c.6037G>A

1 paper

NM_006289.4

p.N2005S

c.6014A>G

1 paper

NM_006289.4

p.I1989del1

c.5965_5966delAAT

1 paper

NM_006289.4

p.I1988_I1989del1

c.5964_5966delATG

1 paper

NM_006289.4

p.A1984T

c.5950G>A

2 papers

NM_006289.4

p.V1964I

c.5890G>A

1 paper

NM_006289.4

p.K2024E

c.6070A>G

1 paper

NM_006289.4

p.K2031E

c.6091A>G

1 paper

NM_006289.4

p.Q2046H

c.6138G>T

1 paper

NM_006289.4

p.Q2046H

c.6138G>C

1 paper

NM_006289.4

p.A2053A

c.6159G>A

1 paper

NM_006289.4

p.R2057H

c.6170G>A