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.E38E

c.114G>A

Surrounding Variants

1 paper

NM_006289.4

p.P37fs

c.109_110fs

1 paper

NM_006289.4

p.P40S

c.118C>T

1 paper

NM_006289.4

p.R35W

c.103C>T

4 papers

NM_006289.4

p.R33H

c.98G>A

2 papers

NM_006289.4

p.T16M

c.47C>T

1 paper

NM_006289.4

p.M1K

c.2T>A

1 paper

NM_006289.4

p.D55A

c.164A>C

1 paper

NM_006289.4

p.D55E

c.165C>G

1 paper

NM_006289.4

p.D55E

c.165C>A

1 paper

NM_006289.4

p.N75_G76delFs

c.224_227del4

1 paper

NM_006289.4

p.N123I

c.368A>T

1 paper

NM_006289.4

p.Y127_S128ins1

c.381_382insATC