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.C1337fs

c.4009_4010fs

Surrounding Variants

1 paper

NM_000179.3

p.V1336D

c.4007T>A

1 paper

NM_000179.3

p.V1336fs

c.4006_4007fs

2 papers

NM_000179.3

p.V1336insFs

c.4006_4007insTT

1 paper

NM_000179.3

p.V1336F

c.4006G>T

2 papers

NM_000179.3

p.E1335D

c.4005A>C

2 papers

NM_000179.3

p.E1335D

c.4005A>T

7 papers

NM_000179.3

p.E1335A

c.4004A>C

1 paper

NM_000179.3

p.E1335_V1336delFs

c.4005_4008del4

1 paper

NM_000179.3

p.E1335Q

c.4003G>C

1 paper

NM_000179.3

p.E1335_V1336insFs

c.4004_4007dup4

2 papers

NM_000179.3

p.A1339insFs

c.4015_4016insCT

2 papers

NM_000179.3

p.E1335fs

c.4003_4004fs