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.V1070fs

c.3208_3209fs

Surrounding Variants

5 papers

NM_000051.4

p.V1070I

c.3208G>A

1 paper

NM_000051.4

p.V1070L

c.3208G>C

1 paper

NM_000051.4

p.V1070L

c.3208G>T

1 paper

NM_000051.4

p.V1070delFs

c.3209delT

1 paper

NM_000051.4

p.P1069_N1071ins1

c.3207_3212dup6

1 paper

NM_000051.4

p.N1071D

c.3211A>G

2 papers

NM_000051.4

p.P1069T

c.3205C>A

1 paper

NM_000051.4

p.P1069fs

c.3205_3206fs

2 papers

NM_000051.4

p.P1069S

c.3205C>T

2 papers

NM_000051.4

p.P1069fs

c.3205_3206fs

2 papers

NM_000051.4

p.N1071S

c.3212A>G

1 paper

NM_000051.4

p.F1068L

c.3204T>A