Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.T1247_H1248del2

c.3739_3743del6

Surrounding Variants

3 papers

NM_000179.3

p.H1248_Y1249delFs

c.3742_3745del4

2 papers

NM_000179.3

p.H1248_Q1258ins3

c.3744_3773dup30

5 papers

NM_000179.3

p.H1248_Q1258del0

c.3744_3773del30

1 paper

NM_000179.3

p.S1246*

c.3737C>A

1 paper

NM_000179.3

p.S1246*

c.3737C>G

2 papers

NM_000179.3

p.S1246L

c.3737C>T

1 paper

NM_000179.3

p.T1247I

c.3740C>T

1 paper

NM_000179.3

p.S1246fs

c.3736_3737fs

1 paper

NM_000179.3

p.F1245L

c.3735T>A

1 paper

NM_000179.3

p.F1245L

c.3735T>G

1 paper

NM_000179.3

p.F1245_S1246insFs

c.3735_3736ins25

1 paper

NM_000179.3

p.H1248_V1253del6

c.3742_3758del18