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.N1071D

c.3211A>G

Surrounding Variants

2 papers

NM_000051.4

p.N1071S

c.3212A>G

1 paper

NM_000051.4

p.N1071N

c.3213T>C

1 paper

NM_000051.4

p.E1072delFs

c.3214_3215delGA

5 papers

NM_000051.4

p.V1070I

c.3208G>A

1 paper

NM_000051.4

p.E1072K

c.3214G>A

1 paper

NM_000051.4

p.V1070L

c.3208G>C

1 paper

NM_000051.4

p.E1072fs

c.3214_3215fs

16 papers

NM_000051.4

p.E1072*

c.3214G>T

1 paper

NM_000051.4

p.V1070L

c.3208G>T

1 paper

NM_000051.4

p.E1072fs

c.3214_3215fs

1 paper

NM_000051.4

p.V1070delFs

c.3209delT

1 paper

NM_000051.4

p.V1070fs

c.3208_3209fs