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.F916insFs

c.2748dupT

Surrounding Variants

1 paper

NM_000179.3

p.F916L

c.2746T>C

1 paper

NM_000179.3

p.A915_A921delFs

c.2744_2762del19

1 paper

NM_000179.3

p.A915delFs

c.2743delG

1 paper

NM_000179.3

p.F916L

c.2748T>A

1 paper

NM_000179.3

p.F916L

c.2748T>G

1 paper

NM_000179.3

p.D917insFs

c.2749dupG

1 paper

NM_000179.3

p.T914I

c.2741C>T

2 papers

NM_000179.3

p.D917fs

c.2749_2750fs

1 paper

NM_000179.3

p.T914ins1

c.2740_2741insATC

1 paper

NM_000179.3

p.T914fs

c.2740_2741fs

1 paper

NM_000179.3

p.T914S

c.2740A>T

2 papers

NM_000179.3

p.D917delFs

c.2751delC