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.K417*

c.1249A>T

Surrounding Variants

3 papers

NM_000179.3

p.K417fs

c.1249_1250fs

1 paper

NM_000179.3

p.K417fs

c.1249_1250fs

1 paper

NM_000179.3

p.K417delFs

c.1250delA

1 paper

NM_000179.3

p.K417delFs

c.1249_1250delAA

1 paper

NM_000179.3

p.K417N

c.1251G>T

1 paper

NM_000179.3

p.S418_Q419delFs

c.1254_1255delTC

1 paper

NM_000179.3

p.Q419_L423delFs

c.1255_1268del14

1 paper

NM_000179.3

p.I416_S418del0

c.1248_1253del6

3 papers

NM_000179.3

p.I416insFs

c.1247dupT

1 paper

NM_000179.3

p.I416F

c.1246A>T

1 paper

NM_000179.3

p.I416delFs

c.1247_1248delTT

2 papers

NM_000179.3

p.S418P

c.1252T>C