Varaico: Literature-Extracted Genetic Variants

TNFRSF11A

394 papers

RefSeq Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-ka...

Pfam Domains

RANK_CRD_2aa 89–129UCSCReceptor activator of the NF-KB cysteine-rich repeat domain 2

TNFR_c6aa 154–194UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

TNF receptor superfamily member 11a

HGNC Previous Symbols

PDB2; LOH18CR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003839.4

p.H430Y

c.1288C>T

Surrounding Variants

2 papers

NM_003839.4

p.D427N

c.1279G>A

1 paper

NM_003839.4

p.H433insFs

c.1299dupC

7 papers

NM_003839.4

p.W434*

c.1301G>A

4 papers

NM_003839.4

p.W434*

c.1302G>A

1 paper

NM_003839.4

p.L422_Q423Fs

c.1266_1268delinsCCFs

1 paper

NM_003839.4

p.L422fs

c.1264_1265fs

1 paper

NM_003839.4

p.P438L

c.1313C>T

1 paper

NM_003839.4

p.Y421C

c.1262A>G

1 paper

NM_003839.4

p.N420S

c.1259A>G

1 paper

NM_003839.4

p.N420_V426del7

c.1258_1277del21

1 paper

NM_003839.4

p.E419G

c.1256A>G

4 papers

NM_003839.4

p.M416fs

c.1246_1247fs