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

1 paper

NM_000051.4

p.L409insFs

c.1226dupT

Surrounding Variants

2 papers

NM_000051.4

p.L409V

c.1225C>G

4 papers

NM_000051.4

p.L409F

c.1225C>T

1 paper

NM_000051.4

p.L409delFs

c.1226_1227delTT

1 paper

NM_000051.4

p.D408E

c.1224T>A

1 paper

NM_000051.4

p.L409P

c.1226T>C

1 paper

NM_000051.4

p.D408E

c.1224T>G

1 paper

NM_000051.4

p.D408A

c.1223A>C

1 paper

NM_000051.4

p.D408G

c.1223A>G

1 paper

NM_000051.4

p.D408N

c.1222G>A

1 paper

NM_000051.4

p.V410M

c.1228G>A

1 paper

NM_000051.4

p.D408H

c.1222G>C

1 paper

NM_000051.4

p.D408Y

c.1222G>T