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

148 papers

NM_000179.3

p.F1088fs

c.3262_3263fs

Surrounding Variants

1 paper

NM_000179.3

p.F1088insFs

c.3262_3263insC

110 papers

NM_000179.3

p.F1088fs

c.3262_3263fs

5 papers

NM_000179.3

p.F1088insFs

c.3263dupT

1 paper

NM_000179.3

p.P1087P

c.3261C>T

2 papers

NM_000179.3

p.F1088delFs

c.3263delT

2 papers

NM_000179.3

p.F1088S

c.3263T>C

4 papers

NM_000179.3

p.E1090_K1092delFs

c.3268_3274del7

15 papers

NM_000179.3

p.P1087H

c.3260C>A

17 papers

NM_000179.3

p.P1087R

c.3260C>G

3 papers

NM_000179.3

p.P1087L

c.3260C>T

2 papers

NM_000179.3

p.P1087_F1088delFs

c.3261_3262delCT

5 papers

NM_000179.3

p.F1088_L1089del1

c.3264_3266delCTT