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.T1263A

c.3787A>G

Surrounding Variants

1 paper

NM_006289.4

p.R1269*

c.3805C>T

1 paper

NM_006289.4

p.F1278F

c.3834C>T

1 paper

NM_006289.4

p.R1241L

c.3722G>T

3 papers

NM_006289.4

p.R1241W

c.3721C>T

1 paper

NM_006289.4

p.T1234I

c.3701C>T

1 paper

NM_006289.4

p.A1292S

c.3874G>T

1 paper

NM_006289.4

p.P1230L

c.3689C>T

1 paper

NM_006289.4

p.P1229S

c.3685C>T

1 paper

NM_006289.4

p.R1298*

c.3892C>T

1 paper

NM_006289.4

p.Q1300L

c.3899A>T

1 paper

NM_006289.4

p.S1227S

c.3681G>T

5 papers

NM_006289.4

p.S1227L

c.3680C>T