Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.V1190A

c.3569T>C

Surrounding Variants

1 paper

NM_000051.4

p.V1190M

c.3568G>A

3 papers

NM_000051.4

p.K1192delFs

c.3575delA

1 paper

NM_000051.4

p.K1191fs

c.3571_3572fs

1 paper

NM_000051.4

p.K1191Q

c.3571A>C

1 paper

NM_000051.4

p.K1191*

c.3571A>T

2 papers

NM_000051.4

p.K1191fs

c.3571_3572fs

1 paper

NM_000051.4

p.K1191_K1192insFs

c.3573_3574ins7

1 paper

NM_000051.4

p.L1189I

c.3565C>A

1 paper

NM_000051.4

p.L1189insFs

c.3565_3566insCT

2 papers

NM_000051.4

p.L1189_V1190ins4

c.3565_3569ins12

1 paper

NM_000051.4

p.L1189V

c.3565C>G

5 papers

NM_000051.4

p.L1189F

c.3565C>T