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

3 papers

NM_000179.3

p.A83fs

c.247_248fs

Surrounding Variants

1 paper

NM_000179.3

p.A83T

c.247G>A

1 paper

NM_000179.3

p.A83_A84delFs

c.249_250delTG

1 paper

NM_000179.3

p.P82P

c.246T>C

1 paper

NM_000179.3

p.P82insFs

c.246dupT

1 paper

NM_000179.3

p.P82L

c.245C>T

1 paper

NM_000179.3

p.P82S

c.244C>T

3 papers

NM_000179.3

p.A84T

c.250G>A

3 papers

NM_000179.3

p.P85insFs

c.255dupC

2 papers

NM_000179.3

p.A84fs

c.250_251fs

1 paper

NM_000179.3

p.P85delFs

c.255delC

1 paper

NM_000179.3

p.A84V

c.251C>T

2 papers

NM_000179.3

p.A84A

c.252C>G