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.L364F

c.1092G>C

Surrounding Variants

1 paper

NM_000051.4

p.L364L

c.1092G>A

1 paper

NM_000051.4

p.L364F

c.1092G>T

1 paper

NM_000051.4

p.E365_I366del2

c.1093_1097del6

6 papers

NM_000051.4

p.E365K

c.1093G>A

1 paper

NM_000051.4

p.E365V

c.1094A>T

1 paper

NM_000051.4

p.L364_E365del1

c.1091_1093delTGG

2 papers

NM_000051.4

p.S363S

c.1089C>A

1 paper

NM_000051.4

p.E365D

c.1095G>C

1 paper

NM_000051.4

p.E365D

c.1095G>T

1 paper

NM_000051.4

p.I366delFs

c.1096delA

1 paper

NM_000051.4

p.I366F

c.1096A>T

1 paper

NM_000051.4

p.S363Y

c.1088C>A