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.V1253L

c.3757G>C

Surrounding Variants

2 papers

NM_000179.3

p.V1253fs

c.3757_3758fs

1 paper

NM_000179.3

p.V1253L

c.3757G>T

17 papers

NM_000179.3

p.V1253E

c.3758T>A

6 papers

NM_000179.3

p.V1253A

c.3758T>C

2 papers

NM_000179.3

p.D1255ins1

c.3764_3765insAGA

5 papers

NM_000179.3

p.E1254del1

c.3760_3761delGAA

1 paper

NM_000179.3

p.L1252_V1253delFs

c.3756_3759del4

1 paper

NM_000179.3

p.L1252V

c.3754T>G

1 paper

NM_000179.3

p.L1252fs

c.3754_3755fs

1 paper

NM_000179.3

p.L1252insFs

c.3755dupT

10 papers

NM_000179.3

p.E1254D

c.3762A>C

10 papers

NM_000179.3

p.E1254D

c.3762A>T